Incidental Mutation 'R3879:Pramex1'
ID 308699
Institutional Source Beutler Lab
Gene Symbol Pramex1
Ensembl Gene ENSMUSG00000031411
Gene Name PRAME like, X-linked 1
Synonyms 4930534P07Rik, Prame
MMRRC Submission 040793-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3879 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 134513751-134528454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134514194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 365 (H365R)
Ref Sequence ENSEMBL: ENSMUSP00000108784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033786] [ENSMUST00000113159]
AlphaFold Q9D4Z5
Predicted Effect probably benign
Transcript: ENSMUST00000033786
AA Change: H365R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033786
Gene: ENSMUSG00000031411
AA Change: H365R

DomainStartEndE-ValueType
SCOP:d1a4ya_ 209 409 8e-13 SMART
low complexity region 442 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113159
AA Change: H365R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108784
Gene: ENSMUSG00000031411
AA Change: H365R

DomainStartEndE-ValueType
SCOP:d1a4ya_ 209 409 8e-13 SMART
low complexity region 442 453 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117832
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (38/40)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik T C 3: 89,970,561 (GRCm39) probably benign Het
Aass G A 6: 23,122,520 (GRCm39) H68Y probably damaging Het
Abcc8 T A 7: 45,754,051 (GRCm39) K1588N possibly damaging Het
Calcoco1 T C 15: 102,615,823 (GRCm39) D601G probably damaging Het
Ccdc175 C A 12: 72,182,792 (GRCm39) R409I probably damaging Het
Ccnl1 A G 3: 65,856,179 (GRCm39) V242A possibly damaging Het
Clasp2 T C 9: 113,719,029 (GRCm39) F705L probably damaging Het
Cyp46a1 A G 12: 108,324,389 (GRCm39) T389A probably benign Het
Eps8 A G 6: 137,504,360 (GRCm39) probably benign Het
Gm9894 T C 13: 67,912,916 (GRCm39) noncoding transcript Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Nup153 A T 13: 46,837,436 (GRCm39) V1262E probably damaging Het
Nup210l A G 3: 90,092,780 (GRCm39) T1245A probably damaging Het
Or10ad1b C T 15: 98,125,085 (GRCm39) C147Y probably damaging Het
Or5b121 A G 19: 13,507,613 (GRCm39) Y236C probably damaging Het
Pcif1 G A 2: 164,727,878 (GRCm39) G189D probably benign Het
Pdzd2 A G 15: 12,375,594 (GRCm39) S1514P probably damaging Het
Pigu A T 2: 155,141,063 (GRCm39) F276I probably damaging Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rasgrp2 A T 19: 6,463,920 (GRCm39) Q539H probably benign Het
Rgs22 T G 15: 36,107,051 (GRCm39) I112L possibly damaging Het
Slc26a9 A T 1: 131,696,969 (GRCm39) T786S probably benign Het
Sned1 A G 1: 93,192,752 (GRCm39) probably benign Het
St7l G A 3: 104,833,763 (GRCm39) V475I probably damaging Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top3a A G 11: 60,634,765 (GRCm39) V713A possibly damaging Het
Trim16 G A 11: 62,731,433 (GRCm39) G348S probably damaging Het
Tshz3 C T 7: 36,470,962 (GRCm39) Q984* probably null Het
Ttn A G 2: 76,566,406 (GRCm39) probably null Het
Ubfd1 T A 7: 121,667,999 (GRCm39) probably benign Het
Zfp37 A T 4: 62,109,572 (GRCm39) Y497* probably null Het
Zfp462 G A 4: 55,060,095 (GRCm39) C1207Y probably damaging Het
Zfp607b A G 7: 27,403,476 (GRCm39) E644G possibly damaging Het
Other mutations in Pramex1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Pramex1 APN X 134,515,258 (GRCm39) missense probably benign 0.44
R4006:Pramex1 UTSW X 134,514,374 (GRCm39) missense probably damaging 1.00
R4007:Pramex1 UTSW X 134,514,374 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGCTTCTGCCGGTCTAATC -3'
(R):5'- GCCGTTCTGTGAAATTTCTTACAG -3'

Sequencing Primer
(F):5'- GCCGGTCTAATCTGCCATGAAATTG -3'
(R):5'- CAGAGATCTCAAATTTCTATCCCAG -3'
Posted On 2015-04-17